ClinVar Miner

List of variants studied for polydactyly-syndactyly-triphalangism by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) rs912576738
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_002968.3(SALL1):c.269dup (p.Pro91fs) rs2143452445
NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu) rs376879952

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